tbuckley/cabot-search huggingface dataset:
Biallelic <i>PAX5</i> mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder
Authors: Fabian M.P. Kaiser, Sarah Gruenbacher, Maria Roa Oyaga, Enzo Nio, Markus Jaritz, Qiong Sun, Wietske van der Zwaag, Emanuel Kreidl, Lydia M. Zopf, Virgil A.S.H. Dalm, Johan Pel, Carolin Gaiser, Rick van der Vliet, Lucas Wahl, André Rietman, Louisa Hill, Ines Leca, Gertjan Driessen, Charlie Laffeber, Alice Brooks, Peter D. Katsikis, Joyce H.G. Lebbink, Kikuë Tachibana, Mirjam van der Burg, Chris I. De Zeeuw, Aleksandra Badura, Meinrad Busslinger
Journal: The Journal of Experimental Medicine (2022)

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed behavioral deficits in all ASD domains. The patient and the mouse model showed aberrant cerebellar foliation and severely impaired sensorimotor learning. PAX5 deficiency also caused profound hypoplasia of the substantia nigra and ventral tegmental area due to loss of GABAergic neurons, thus affecting two midbrain hubs, controlling motor function and reward processing, respectively. Heterozygous Pax5 mutant mice exhibited similar anatomic and behavioral abnormalities. Lineage tracing identified Pax5 as a crucial regulator of cerebellar morphogenesis and midbrain GABAergic neurogenesis. These findings reveal new roles of Pax5 in brain development and unravel the underlying mechanism of a novel immunological and neurodevelopmental syndrome.
Rifampin Therapy of Staphylococcus epidermidis
Authors: Gordon L. Archer
Journal: JAMA (1978)

Rifampin was added to existing antibiotic regimens in two patients with<i>Staphylococcus epidermidis</i>infections; one patient had prosthetic valve endocarditis and the other had an infection of a CSF shunt. The addition of rifampin increased serum or CSF bactericidal titers 16-fold or greater and was correlated with a favorable clinical response. The results of tests for tube-dilution antibiotic susceptibility showed rifampin to be the most active of all antibiotics tested against the patients' organisms. The combinations of gentamicin sulfate, nafcillin sodium, or vancomycin hydrochloride with rifampin prevented the emergence of rifampin resistance in vitro and promoted enhanced killing when compared with either antibiotic alone. (<i>JAMA</i>240:751-753, 1978)
Recent advances in engineered polymeric materials for efficient photodynamic inactivation of bacterial pathogens
Authors: Sathishkumar Gnanasekar, Gopinath Kasi, Xiaodong He, Kai Zhang, Liqun Xu, En-Tang Kang
Journal: Bioactive Materials (2022)

Nowadays, infectious diseases persist as a global crisis by causing significant destruction to public health and the economic stability of countries worldwide. Especially bacterial infections remain a most severe concern due to the prevalence and emergence of multi-drug resistance (MDR) and limitations with existing therapeutic options. Antibacterial photodynamic therapy (APDT) is a potential therapeutic modality that involves the systematic administration of photosensitizers (PSs), light, and molecular oxygen (O2) for coping with bacterial infections. Although the existing porphyrin and non-porphyrin PSs were effective in APDT, the poor solubility, limited efficacy against Gram-negative bacteria, and non-specific distribution hinder their clinical applications. Accordingly, to promote the efficiency of conventional PSs, various polymer-driven modification and functionalization strategies have been adopted to engineer multifunctional hybrid phototherapeutics. This review assesses recent advancements and state-of-the-art research in polymer-PSs hybrid materials developed for APDT applications. Further, the key research findings of the following aspects are considered in-depth with constructive discussions: i) PSs-integrated/functionalized polymeric composites through various molecular interactions; ii) PSs-deposited coatings on different substrates and devices to eliminate healthcare-associated infections; and iii) PSs-embedded films, scaffolds, and hydrogels for regenerative medicine applications.
Acute Monoarticular Arthritis
Authors: James F. Freed
Journal: JAMA (1980)

A group of adult patients with acute nontraumatic monoarticular arthritis was studied. Using only the traditional clinical tools of history, physical examination, joint x-ray films, and synovial fluid culture, Gram's stain, and examination for crystals, 74% of the diagnoses made were achieved either immediately or within two to three days. Overall, 64% of the cases were diagnosed during follow-up. Other tests were not found to be helpful in the acute situation and should be utilized only if the tests already mentioned fail to yield a diagnosis. The prognosis of patients with acute monoarthritis that remains undiagnosed after thorough evaluation is generally good. (<i>JAMA</i>243:2314-2316, 1980)
One Snake or Two?
Authors: Robert E. Rakel
Journal: JAMA (1985)

The staff of Aesculapius has represented medicine since about 800 BC, and most authorities support its use as the symbol of medicine. The<i>Encyclopaedia Britannica</i>agrees: "This staff is the only true symbol of medicine." Why, then, is the caduceus, which had never been chosen to represent medicine until after 1800, so frequently being adopted as the symbol of medicine? And is the twin-serpent magic wand of Hermes (later the Roman Mercury), messenger of the gods and protector of merchants and thieves, an appropriate symbol for the medical profession? The word<i>caduceus</i>is derived from a Greek root meaning "herald's wand." The Romans were said to have used the caduceus as a badge of neutrality among heralds seeking peaceful negotiations with the enemy. Hart<sup>1</sup>notes that the beginning of the use of the caduceus as a medical symbol in the United States dates back to 1856, when it was selected
Large Autopsy Study Estimates Prevalence of “LATE” Neuropathologic Change
Authors: Emily Harris
Journal: JAMA (2022)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Open or Endovascular Repair for Abdominal Aortic Aneurysm—Would a Decision Aid Help?
Authors: Stephen W. K. Cheng
Journal: JAMA Surgery (2022)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Surgery HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Surgery journal
Quantifying Frailty Requires a Conceptual Model Before a Statistical Model—Reply
Authors: Sidney T. Le, Vincent X. Liu, Elizabeth M. Cespedes Feliciano
Journal: JAMA Surgery (2022)

In Reply We appreciate the letter from Reitz et al in response to our original JAMA Surgery research study.1 Several points regarding frailty measurement and the evaluation of frailty metrics warrant clarification and emphasis.
Understanding the Association of Childhood Tobacco Use With Neuropathological Outcomes and Cognitive Performance Deficits in Vulnerable Brains
Authors: Steven R. Laviolette
Journal: JAMA Network Open (2022)

Hongying Daisy Dai, PhD; Gaelle E. Doucet, PhD; Yingying Wang, PhD; Troy Puga, BS; Kaeli Samson, MA, MPH; Peng Xiao, PhD; Ali S. Khan, MD
Multiple Skin-Colored Subcutaneous Nodules in a Girl
Authors: Zhenhua Zhang, Jiaosheng Xu, Zigang Xu
Journal: JAMA Dermatology (2022)

A 2-year-old child presented with skin-colored subcutaneous nodules that developed 40 days after birth, starting on the left foot and progressing to the face, trunk, and extremities and distal interphalangeal joint deformity of both hands. What is your diagnosis?
Effect of Prior Diagnoses on Dermatopathologists’ Interpretations of Melanocytic Lesions
Authors: Joann G. Elmore, Megan M. Eguchi, Raymond L. Barnhill, Lisa M. Reisch, David E. Elder, Michael W. Piepkorn, Tad T. Brunyé, Andrea C. Radick, Hannah L. Shucard, Stevan R. Knezevich, Kathleen F. Kerr
Journal: JAMA Dermatology (2022)

Medical second opinions are common, although little is known about the best processes for obtaining them. This study assesses whether knowledge of a prior physician's diagnosis influences consulting physicians' diagnoses.
Compliance of National Cancer Institute–Designated Cancer Centers With January 2021 Price Transparency Requirements
Authors: Christopher P. Childers, Jacob Guorgui, Sami Siddiqui, Timothy Donahue
Journal: JAMA Surgery (2022)

This cross-sectional study investigates the compliance rate of hospitals with National Cancer Institute–designated cancer center status with the Centers for Medicare &amp;amp;amp; Medicaid Services January 2021 price transparency requirements.
Improving Quality Improvement—From Aspiration Toward Empiricism
Authors: Andrew S. Oseran, Rishi K. Wadhera
Journal: JAMA Cardiology (2022)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Cardiology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Cardiology journal
Association Between Brain Structure and Alcohol Use Behaviors in Adults
Authors: Lucas A. Mavromatis, Daniel B. Rosoff, Renata B. Cupertino, Hugh Garavan, Scott Mackey, Falk W. Lohoff
Journal: JAMA Psychiatry (2022)

Past studies have identified associations between brain macrostructure and alcohol use behaviors. However, identifying directional associations between these phenotypes is difficult due to the limitations of observational studies.
An Older Woman With a Mobile Right Atrial Mass
Authors: Olina Dagher, Philippe Joubert, Michel Pellerin
Journal: JAMA Cardiology (2022)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Cardiology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Cardiology journal
Understanding Flares in Patients With Generalized Pustular Psoriasis Documented in US Electronic Health Records
Authors: Carla L. Zema, Wendell C. Valdecantos, Jonathan Weiss, Blake Krebs, Alan M. Menter
Journal: JAMA Dermatology (2022)

Other than single-center case studies, little is known about generalized pustular psoriasis (GPP) flares.To assess GPP flares and their treatment, as well as differences between patients with and patients without flares documented in US electronic health records (EHRs).This retrospective cohort study included adult patients with GPP (International Statistical Classification of Diseases and Related Health Problems, Tenth Revision code L40.1) identified in Optum deidentified EHR data between July 1, 2015, and June 30, 2020. The index GPP diagnosis was the first occurrence in the EHR, with no coded history of GPP for at least 6 months prior. Flare episodes were identified using an algorithm based on diagnosis coding, care setting, type of clinician, GPP disease terms, and flare terms and attributes in the EHR.Flare episodes were characterized by the frequency of occurrence per patient, the care setting in which they were identified, the type of specialist managing the episode, associated symptoms, and the type of treatment before, during, and after the episode. Patients were divided into groups based on whether or not they had a flare episode documented in their EHR. Comparisons were made between the groups based on demographic characteristics, comorbidity burden, health care use, and treatments.Of 1535 patients with GPP (1018 women [66.3%]; mean [SD] age, 53.4 [14.7] years), 271 had 513 flares documented. Compared with patients without flares, patients with flares had a 34% higher mean (SD) Charlson Comorbidity Index score (2.80 [3.11] vs 2.09 [2.52]), were almost 3 times more likely to have inpatient visits (119 of 271 [44%] vs 194 of 1264 [15%]), were more than twice as likely to have emergency department (ED) visits (126 of 271 [47%] vs 299 of 1264 [24%]), and had higher use of almost all treatment classes. Flares were identified in outpatient (271 of 513 [53%]), inpatient (186 of 513 [36%]), and ED (48 of 513 [9%]) settings. The most common treatments during flares were topical corticosteroids (35% of episodes [178 of 513]), opioids (21% [106 of 513]), other oral treatments, (eg, methotrexate, cyclosporine, tacrolimus; 13% [67 of 513]), and oral corticosteroids (11% [54 of 513]). Almost one-fourth of flare episodes (24% [122 of 513]) had no dermatologic treatment 30 days before, during, or 30 days after a flare episode.This cohort study suggests that there is significant unmet need for the treatment of GPP and its flares, as evidenced by patients seeking treatment in inpatient and ED settings, as well as the lack of advanced treatments.
Antibiotic Stewardship in Dermatology—Reducing the Risk of Prolonged Antimicrobial Resistance in Skin
Authors: Margaret A. MacGibeny, Jay-Hyun Jo, Heidi H. Kong
Journal: JAMA Dermatology (2022)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Dermatology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Dermatology journal
Carcinoid Tumor of Meckel's Diverticulum
Authors: Brice Letac
Journal: JAMA (1969)

Carcinoidosis due to a tumor in Meckel's diverticulum occurred in a 68-year-old man. Location of a carcinoid tumor in Meckel's diverticulum is very rare, and its association with a carcinoid syndrome is rarer still. Clinical manifestations were peculiar as they were dominated by respiratory disorders consisting of attacks of asthma and permanent dyspnea. Respiratory function tests confirmed the spasmodic bronchostenosis and its relief with isoproterenol sulfate (Aleudrin [Britain]; Norisodrine Sulfate, comparable US product). At autopsy, there was a small primary tumor in Meckel's diverticulum with spread to the mesenteric lymph nodes and to the liver. Heart lesions were limited to a thickening of the leaflets and chordae tendineae of the tricuspid valve. Serotonin content of the tumor tissue was 10μg/gm of tissue, an abnormally high figure though much lower than that usually found in these tumors.
Indications for Pacing in the Treatment of Bradyarrhythmias
Authors: Brendan Phibbs
Journal: JAMA (1984)

Indications for permanent pacing in the bradyarrhythmias are summarized. In the absence of symptoms, pacing is justified only when Mobitz type II block or complete atrioventricular (AV) block is localized in the bundlebranch system. All other abnormalities of impulse generation or conduction (incomplete AV block of any type, atrial fibrillation with slow ventricular response, or sinus node dysfunction) must be shown to be stable and intrinsic and to cause CNS symptoms or hemodynamic compromise to justify pacing. Isolated intra-Hisian abnormality without failure of AV conduction is benign. Measurement of HV interval does not contribute significant information. Correlation of carotid sinus sensitivity with carotid sinus syncope is poor (5%). Bradyarrhythmia produced by minimal effective doses of an essential drug is a rare indication for pacing and requires special documentation. Inadequate indications, sources of error, and misconceptions are discussed. Generally, it is important to exclude drug effect, transient clinical states, and correctable systemic disease as causes of the abnormality before making a conclusion about pacing. (<i>JAMA</i>1984;252:1307-1311)
Type 1 diabetes and engineering enhanced islet transplantation
Authors: Abiramy Jeyagaran, Chuan-en Lu, Aline Zbinden, Andreas L. Birkenfeld, Sara Y. Brucker, Shannon L. Layland
Journal: Advanced Drug Delivery Reviews (2022)

The development of new therapeutic approaches to treat type 1 diabetes mellitus (T1D) relies on the precise understanding and deciphering of insulin-secreting β-cell biology, as well as the mechanisms responsible for their autoimmune destruction. β-cell or islet transplantation is viewed as a potential long-term therapy for the millions of patients with diabetes. To advance the field of insulin-secreting cell transplantation, two main research areas are currently investigated by the scientific community: (1) the identification of the developmental pathways that drive the differentiation of stem cells into insulin-producing cells, providing an inexhaustible source of cells; and (2) transplantation strategies and engineered transplants to provide protection and enhance the functionality of transplanted cells. In this review, we discuss the biology of pancreatic β-cells, pathology of T1D and current state of β-cell differentiation. We give a comprehensive view and discuss the different possibilities to engineer enhanced insulin-secreting cell/islet transplantation from a translational perspective.
Interactive effects of cerium and copper to tune the microstructure of silicocarnotite bioceramics towards enhanced bioactivity and good biosafety
Authors: Shunxiang Xu, Qiang Wu, Bo He, Jiancun Rao, Dick Ho Kiu Chow, Jiankun Xu, Xin Wang, Ye Sun, Congqin Ning, Kerong Dai
Journal: Biomaterials (2022)
Primary Biliary Cirrhosis
Authors: Marshall M. Kaplan, M. Eric Gershwin
Journal: New England Journal of Medicine (2005)

Primary biliary cirrhosis, a slowly progressive autoimmune liver disease characterized by portal inflammation and an immune-mediated destruction of the intrahepatic bile ducts, leads to decreased bile secretion and the retention of toxic substances within the liver. This review considers new data concerning both the autoimmune responses involved and the treatment of primary biliary cirrhosis.
Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex
Authors: Patricia Elsa Dill, Didier Bessis, Beatrice Guidi, Smail Hadj-Rabia, Peter Itin, Mary Kay Koenig, Ester Moreno-Artero, Tobias E. Erlanger, Marco Cattaneo, Peter Weber, Mari Wataya-Kaneda
Journal: Journal of the American Academy of Dermatology (2022)